(Q33672318)

28 July 2017

title

Evidence against the structural gene encoding type II collagen (COL2A1) as the mutant locus in achondroplasia (English)

1 reference

28 July 2017

Ogilvie D

1

1 reference

28 July 2017

Wordsworth P

series ordinal

2

1 reference

28 July 2017

Thompson E

series ordinal

3

1 reference

28 July 2017

Sykes B

series ordinal

4

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 February 1986

1 reference

Journal of Medical Genetics

28 July 2017

published in

1 reference

28 July 2017

volume

23

1 reference

28 July 2017

issue

1

1 reference

28 July 2017

page(s)

19-22

1 reference

Parental age and mutation

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049535

Lethal osteogenesis imperfecta and a gene deletion

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049535

Isolation and characterization of a human collagen α 1(I)-like gene from a cosmid library

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049535

Identification and characterization of the human type II collagen gene (COL2A1)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049535

Hypervariable 'minisatellite' regions in human DNA.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049535

Exclusion of the alpha 1(II) cartilage collagen gene as the mutant locus in type IA osteogenesis imperfecta

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049535

Biochemical analysis of epiphyseal cartilage during growth and in some osteochondrodysplasias

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049535

Normal Somatomedin and Somatomedin Receptors in Achondroplastic Dwarfism

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049535

Lethal osteogenesis imperfecta and a collagen gene deletion. Length polymorphism provides an alternative explanation

30 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/3005580

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A new estimate of the achondroplasia mutation rate

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/3005580

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Study by gel electrophoresis, of alpha chains and of CNBr peptides of collagen from epiphyseal cartilage in chondrodysplasia

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/3005580

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

PMC publication ID

1049535

1 reference

28 July 2017

1 reference